PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000455662	[[71295430, 71295842], [71297631, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305998]]	[[71295675, 71295842], [71297631, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305638]]
ENST00000531934	[[71295437, 71295466], [71297631, 71297716], [71297870, 71297969], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303792]]	[[71299859, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303792]]
ENST00000418807	[[71295717, 71295842], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71306935]]	[[71297909, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305638]]
ENST00000443872	[[71295721, 71295842], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305715]]	[[71299859, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305638]]
ENST00000443938	[[71295748, 71295842], [71297631, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304699, 71304766], [71305447, 71305771]]	[[71295813, 71295842], [71297631, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304699, 71304766], [71305447, 71305638]]
ENST00000244204	[[71295751, 71295842], [71297631, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305695]]	[[71295813, 71295842], [71297631, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305638]]
ENST00000450272	[[71295776, 71295842], [71297631, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71299955, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305743]]	[[71295813, 71295842], [71297631, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71299955, 71299969]]
ENST00000475709	[[71295779, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305766]]	None
ENST00000472519	[[71295794, 71295842], [71297631, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71300724], [71302684, 71303831], [71304687, 71304766], [71305447, 71305750]]	None
ENST00000489309	[[71296107, 71298957], [71299770, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305766]]	None
ENST00000524736	[[71297642, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302691, 71302772], [71303733, 71303831], [71304687, 71304766]]	[[71297642, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302691, 71302700]]
ENST00000479854	[[71298678, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303771]]	None
ENST00000529236	[[71298920, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302740], [71303733, 71303831], [71304687, 71304735]]	[[71298920, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302740], [71303733, 71303827]]
ENST00000524537	[[71300666, 71300724], [71304687, 71304766], [71305447, 71305763]]	[[71300666, 71300724], [71304687, 71304766], [71305447, 71305638]]
ENST00000490998	[[71301749, 71303831], [71304687, 71304766], [71305447, 71305769]]	None
ENST00000468601	[[71302545, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305484]]	None
ENST00000531799	[[71291473, 71291629], [71293983, 71294102], [71295324, 71295511]]	None
ENST00000497690	[[71295407, 71295842], [71297631, 71297749]]	None
ENST00000455197	[[71295445, 71295842], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724]]	[[71295675, 71295842], [71298815, 71298828]]
ENST00000484984	[[71295751, 71295842], [71299770, 71300261]]	None
ENST00000493102	[[71295760, 71295842], [71299770, 71299881], [71300611, 71300724], [71302684, 71302937]]	None
ENST00000465105	[[71295779, 71295842], [71297631, 71298149]]	None
ENST00000480411	[[71295779, 71295842], [71297631, 71297716], [71297870, 71298268]]	None
ENST00000533981	[[71295791, 71296191], [71297631, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299820]]	[[71297909, 71297969], [71298815, 71298957], [71299770, 71299820]]
ENST00000464638	[[71297429, 71297969], [71300611, 71300724], [71302684, 71302760]]	None
ENST00000428360	[[71297631, 71297716], [71297870, 71297969], [71298815, 71298957], [71299708, 71299870]]	None
ENST00000478659	[[71299414, 71299881], [71300611, 71300724], [71302684, 71302781]]	None
ENST00000498022	[[71304660, 71304766], [71305447, 71305765]]	None
NM_001330426	[[71295407, 71295466], [71297631, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305998]]	[[71297909, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305638]]
NM_001330425	[[71295407, 71295842], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305998]]	[[71297909, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305638]]
NM_017567	[[71295407, 71295842], [71297631, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305998]]	[[71295675, 71295842], [71297631, 71297716], [71297870, 71297969], [71298815, 71298957], [71299770, 71299881], [71300611, 71300724], [71302684, 71302772], [71303733, 71303831], [71304687, 71304766], [71305447, 71305638]]

Promoter

Chrom	Start	End	Description
chr2	71295416	71295450	CAGE_peak_2_at_NAGK_5end
chr2	71295717	71295732	CAGE_peak_3_at_NAGK_5end
chr2	71295733	71295748	CAGE_peak_4_at_NAGK_5end
chr2	71295766	71295788	CAGE_peak_1_at_NAGK_5end
chr2	71299403	71299421	CAGE_peak_7_at_NAGK_5end
chr2	71299438	71299449	CAGE_peak_12_at_NAGK_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I071448	71448960	71459242	2.56	[{'connected_gene': 'DYSF', 'score': 585.16}, {'connected_gene': 'ZNF638', 'score': 18.22}, {'connected_gene': 'CLEC4F', 'score': 12.6}, {'connected_gene': 'RNU6-105P', 'score': 10.85}, {'connected_gene': 'TEX261', 'score': 10.62}, {'connected_gene': 'ANKRD53', 'score': 10.11}, {'connected_gene': 'PAIP2B', 'score': 5.87}, {'connected_gene': 'OR7E91P', 'score': 5.01}, {'connected_gene': 'NAGK', 'score': 1.85}, {'connected_gene': 'GC02P071578', 'score': 0.13}]
chr2	GH02I070976	70976014	70979838	1.94	[{'connected_gene': 'ANKRD53', 'score': 556.73}, {'connected_gene': 'ZNF638', 'score': 16.3}, {'connected_gene': 'TEX261', 'score': 14.1}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 11.26}, {'connected_gene': 'VAX2', 'score': 10.04}, {'connected_gene': 'NAGK', 'score': 4.91}, {'connected_gene': 'OR7E62P', 'score': 4.67}, {'connected_gene': 'CLEC4F', 'score': 4.65}, {'connected_gene': 'LOC105374795', 'score': 0.44}, {'connected_gene': 'ENSG00000258881', 'score': 0.37}]
chr2	GH02I071023	71023330	71024374	0.9	[{'connected_gene': 'OR7E91P', 'score': 555.38}, {'connected_gene': 'NAGK', 'score': 12.57}, {'connected_gene': 'ENSG00000236469', 'score': 12.57}, {'connected_gene': 'TEX261', 'score': 6.69}, {'connected_gene': 'ENSG00000258881', 'score': 0.31}]
chr2	GH02I070246	70246601	70249920	2.07	[{'connected_gene': 'TIA1', 'score': 560.65}, {'connected_gene': 'C2orf42', 'score': 560.53}, {'connected_gene': 'TRG-CCC2-1', 'score': 550.77}, {'connected_gene': 'PCBP1-AS1', 'score': 23.12}, {'connected_gene': 'GMCL1', 'score': 21.23}, {'connected_gene': 'MPHOSPH10', 'score': 14.5}, {'connected_gene': 'CLEC4F', 'score': 12.59}, {'connected_gene': 'TEX261', 'score': 10.6}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'ANKRD53', 'score': 10.09}, {'connected_gene': 'FAM136A', 'score': 5.88}, {'connected_gene': 'GC02M070219', 'score': 0.31}]
chr2	GH02I070291	70291167	70295237	2.1	[{'connected_gene': 'SNRPG', 'score': 550.77}, {'connected_gene': 'PCBP1-AS1', 'score': 34.02}, {'connected_gene': 'CLEC4F', 'score': 32.44}, {'connected_gene': 'TEX261', 'score': 30.91}, {'connected_gene': 'TIA1', 'score': 28.03}, {'connected_gene': 'GMCL1', 'score': 21.23}, {'connected_gene': 'PCYOX1', 'score': 13.45}, {'connected_gene': 'C2orf42', 'score': 11.83}, {'connected_gene': 'NAGK', 'score': 10.52}, {'connected_gene': 'CD207', 'score': 10.41}, {'connected_gene': 'ANKRD53', 'score': 10.09}, {'connected_gene': 'FAM136A', 'score': 5.02}, {'connected_gene': 'GC02P070271', 'score': 0.34}]
chr2	GH02I071101	71101205	71104108	0.79	[{'connected_gene': 'NAGK', 'score': 9.39}, {'connected_gene': 'MCEE', 'score': 8.21}, {'connected_gene': 'GC02P071084', 'score': 0.37}]
chr2	GH02I071062	71062686	71074523	2.52	[{'connected_gene': 'NAGK', 'score': 592.89}, {'connected_gene': 'ENSG00000272735', 'score': 550.77}, {'connected_gene': 'TIA1', 'score': 24.99}, {'connected_gene': 'ZNF638', 'score': 16.61}, {'connected_gene': 'MPHOSPH10', 'score': 11.25}, {'connected_gene': 'OR7E62P', 'score': 10.02}, {'connected_gene': 'GC02P071073', 'score': 0.77}, {'connected_gene': 'ENSG00000236469', 'score': 0.77}]
chr2	GH02I071047	71047539	71050343	0.64	[{'connected_gene': 'NAGK', 'score': 36.31}, {'connected_gene': 'OR7E62P', 'score': 18.51}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 10.7}, {'connected_gene': 'TRE-CTC15-1', 'score': 0.77}, {'connected_gene': 'ENSG00000236469', 'score': 0.37}]
chr2	GH02I071076	71076121	71076853	0.2	[{'connected_gene': 'NAGK', 'score': 10.92}, {'connected_gene': 'GC02P071073', 'score': 0.77}, {'connected_gene': 'GC02P071084', 'score': 0.44}]
chr2	GH02I071077	71076886	71077512	0.2	[{'connected_gene': 'NAGK', 'score': 11.58}, {'connected_gene': 'GC02P071073', 'score': 0.77}, {'connected_gene': 'GC02P071084', 'score': 0.44}]
chr2	GH02I070189	70189725	70191902	2.11	[{'connected_gene': 'C2orf42', 'score': 561.5}, {'connected_gene': 'TIA1', 'score': 24.78}, {'connected_gene': 'PCBP1-AS1', 'score': 12.67}, {'connected_gene': 'GMCL1', 'score': 11.76}, {'connected_gene': 'PCYOX1', 'score': 11.66}, {'connected_gene': 'MPHOSPH10', 'score': 11.07}, {'connected_gene': 'ASPRV1', 'score': 10.64}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'FAM136A', 'score': 10.27}, {'connected_gene': 'GC02P070210', 'score': 0.37}, {'connected_gene': 'LINC01816', 'score': 0.2}, {'connected_gene': 'GC02P069822', 'score': 0.05}]
chr2	GH02I070080	70080579	70092203	2.33	[{'connected_gene': 'PCBP1', 'score': 550.77}, {'connected_gene': 'TIA1', 'score': 48.73}, {'connected_gene': 'PCBP1-AS1', 'score': 45.64}, {'connected_gene': 'TEX261', 'score': 31.58}, {'connected_gene': 'CLEC4F', 'score': 21.97}, {'connected_gene': 'GMCL1', 'score': 21.25}, {'connected_gene': 'ANKRD53', 'score': 20.71}, {'connected_gene': 'C2orf42', 'score': 13.54}, {'connected_gene': 'MXD1', 'score': 11.24}, {'connected_gene': 'SNRNP27', 'score': 11.13}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'PCYOX1', 'score': 8.74}, {'connected_gene': 'ENSG00000233060', 'score': 0.77}, {'connected_gene': 'RN7SL470P', 'score': 0.39}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2	GH02I070107	70107202	70114496	1.82	[{'connected_gene': 'PCBP1-AS1', 'score': 22.46}, {'connected_gene': 'C2orf42', 'score': 15.48}, {'connected_gene': 'FAM136A', 'score': 12.2}, {'connected_gene': 'GMCL1', 'score': 11.77}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'SNRNP27', 'score': 10.3}, {'connected_gene': 'MXD1', 'score': 10.3}, {'connected_gene': 'PCYOX1', 'score': 8.07}, {'connected_gene': 'PCBP1', 'score': 1.75}, {'connected_gene': 'AAK1', 'score': 1.74}, {'connected_gene': 'GC02P070112', 'score': 0.77}, {'connected_gene': 'GC02P070113', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
chr2	GH02I071478	71477458	71477769	1.11	[{'connected_gene': 'ZNF638', 'score': 16.61}, {'connected_gene': 'ANKRD53', 'score': 10.69}, {'connected_gene': 'DYSF', 'score': 3.06}, {'connected_gene': 'NAGK', 'score': 1.51}, {'connected_gene': 'GC02P071578', 'score': 0.15}]
chr2	GH02I071306	71306437	71307399	0.43	[{'connected_gene': 'ZNF638', 'score': 20.2}, {'connected_gene': 'OR7E91P', 'score': 5.64}, {'connected_gene': 'NAGK', 'score': 4.31}, {'connected_gene': 'ENSG00000281195', 'score': 0.2}]
chr2	GH02I070823	70823342	70823528	0.26	[{'connected_gene': 'CLEC4F', 'score': 558.79}, {'connected_gene': 'NAGK', 'score': 1.99}, {'connected_gene': 'FIGLA', 'score': 1.6}, {'connected_gene': 'LOC100421925', 'score': 0.39}]
chr2	GH02I070717	70717737	70717796	1.12	[{'connected_gene': 'ADD2', 'score': 560.92}, {'connected_gene': 'PCBP1-AS1', 'score': 12.53}, {'connected_gene': 'GMCL1', 'score': 11.73}, {'connected_gene': 'NAGK', 'score': 10.54}, {'connected_gene': 'PIR38094', 'score': 0.31}]
chr2	GH02I071000	71000801	71002818	1.42	[{'connected_gene': 'TEX261', 'score': 17.1}, {'connected_gene': 'ANKRD53', 'score': 8.91}, {'connected_gene': 'NAGK', 'score': 5.44}, {'connected_gene': 'ENSG00000258881', 'score': 0.44}, {'connected_gene': 'LOC105374796', 'score': 0.44}, {'connected_gene': 'OR7E91P', 'score': 0.34}, {'connected_gene': 'ENSG00000236469', 'score': 0.21}]
chr2	GH02I071128	71128525	71132884	2.3	[{'connected_gene': 'MPHOSPH10', 'score': 567.27}, {'connected_gene': 'MCEE', 'score': 559.03}, {'connected_gene': 'TEX261', 'score': 25.04}, {'connected_gene': 'TIA1', 'score': 24.01}, {'connected_gene': 'ZNF638', 'score': 16.64}, {'connected_gene': 'NAGK', 'score': 12.98}, {'connected_gene': 'ANKRD53', 'score': 10.72}, {'connected_gene': 'CLEC4F', 'score': 10.67}, {'connected_gene': 'LOC101060051', 'score': 0.31}]